Healthy female carriers of a gene for the Alport syndrome: Importance for genetic counseling

Abstract

Of 305 female obligatory carriers of a gene for the Alport syndrome [which is characterized by hereditary nephritis, deafness and ophthalmological difficulties] identified in the literature, 37 (12.1%) had no clinical or laboratory signs or symptoms of disease. The prevalence of unaffected female obligatory carriers appeared not to vary according to age or to the severity of the illness in male members of any pedigree. Normal clinical or laboratory data for any female liable for the Alport syndrome must be interpreted with caution.